CDKL5 UK Board of Trustees

We are a small but committed team who dedicate our time to help support families, raise funds and increase awareness of CDKL5

My name is Carol-Anne, and I’m the proud mum of Amber, who lives with CDKL5. I co-founded CDKL5 UK in 2012 and have served as chairperson since its beginning. Our organisation is dedicated to supporting families affected by CDKL5, funding research, and raising public awareness of this rare neurological condition.

In addition to leading CDKL5 UK, I represent CDKL5 associations in Europe as the Epilepsy Patient Advocacy Group (EPAG) representative for EpiCARE—a European Reference Network focused on improving diagnosis and treatment for people living with rare and complex epilepsies. Through this role, I collaborate with clinicians, researchers, and fellow advocates to influence policy, promote best practices, and ensure patient voices are central in shaping care pathways.

I am strongly research-focused and work closely with the Centre of Excellence for CDKL5 at Bristol Royal Hospital for Children. I also engage with the scientific and pharmaceutical industry to help guide clinical research, trial design, and future treatment development for CDKL5. I am committed to helping accelerate progress in understanding and treating this condition.

I live in South West England with my husband Adrian, and we have three children: Amber, and our two grown-up sons, Nathan and Cameron. Professionally, I’m a qualified children’s social worker. My experiences—as both a parent and a professional—have shaped my passion for supporting families, raising awareness, and challenging the assumptions that often surround disability and rare diseases.

I am Shelley, I joined CDKL5 UK a few years ago, as Treasurer. I am mum to Naomi who was born in 2004 and received her diagnosis in 2005. My husband Kevin and I have one other child, Caleb who is a wonderful older brother to Naomi.

Our CDKL5 journey was made easier in those early days when we started to connect with other families and subsequently with the advent of social media this has made connecting so much easier.

It is scary to have a child with significant additional needs, and I try not to think too far into the future but enjoy each day with Naomi.  I am passionate about advocating for her and making sure that she has the best life possible. She has taught us all so much and has a positive impact on anyone who meets her. She is in some respects a typical teenager with mood swings and a very determined nature.

Hi, my name is Sarah Skillicorn, I have been a nurse for almost 20 years along with being a full-time carer and mother to Gracie who has CDKL5. Gracie was born in 2004 and made our family complete. She finally got her diagnosis of CDKL5 in 2009. For me those five long years in limbo were a difficult journey to undertake, drifting but getting nowhere fast. But if you’re here and reading this then I guess no explanation is needed.

My light bulb moment came when I found my CDKL5 family; bonded by our children we are stronger facing this journey together. As experts in our children we wish to educate and raise awareness. To be there for the next family facing this diagnosis, to offer advice, support and a good sturdy shoulder.

I am passionate about supporting rare disease families and have been with CDKL5 UK from the beginning. I strongly believe that together we can navigate this CDKL5 journey. Life is all about balance and I am also passionate about advocating and supporting carers in the workplace. Everyone should have the opportunity and choice to be who they want to be. A CDKL5 diagnosis does not define a family, in my opinion, it can make them stronger.

I always believed that I would teach my daughter about the world but instead I find myself teaching the world about my daughter. And so welcome, I am sorry that you have had to seek us out but am very glad that you have found us.

I am Amanda and Mum to Olivia who was born in June 2008. Olivia was diagnosed with CDKL5 at the age of 11 months after many hours of research and discussions with various neurologists.  I am also a Hematology Senior Staff Nurse on an adult hematology hospital ward.

Olivia having her diagnosis of CDKL5 not only meant the invasive testing could stop but helped me to quickly understand Olivia and her needs but also what I needed to do for her. It gave me more clarity in the pathway that was to be Olivia. Having CDKL5 as a diagnosis enabled me to research what it meant for so many beautiful children and their family’s living with CDKL5.

I am extremely honoured and proud to be part of the CDKL5 UK charity and look forward to assisting the charity in the future challenges it will no doubt face.

My wife Sapna and I are parents to Jia’s and live in the West Midlands. Jia has a younger brother, Jai, and sister, Asha. I have a job in IT and my wife used to work as a Trading Standards Officer before she became Jia’s full-time carer.  Jia was born in 2005 and was diagnosed with CDKL5 in 2009 – a month before her brother Jai was born. The diagnosis was a relief as Jia had been tested for pretty much everything else going! Having a diagnosis, for us, meant that we could move forward in our lives and look towards a future. Together we can help Jia reach her potential with friends who would also be going on this journey too. Enabling our whole family to support and be supported through the good times and the bad.

My name is Heike Knip, and I own a Web Design and Marketing company in Surrey, where I live with my family. Before our recent move to the United Kingdom, in 2016, we have previously lived in the Netherlands and Malta.

In 2014 our youngest daughter Valentina was born, and in 2015 she was diagnosed with CDLK5 deficiency in UMCG in Groningen, the Netherlands. Even though Valentina is severely limited physically and not able to speak due to her condition, we have enjoyed seeing her develop her own personality and can see many traits of myself and my wife in her.

It’s important to highlight these achievements as I feel that us as parents as well as the medical profession can underestimate what our children know and can become. And we will continue to give her the support she needs to develop further in the coming years.

My aim, as a trustee of CDKL5 UK, is to helping the charity work towards finding a treatment or a cure, so we can help children like my daughter. Therefore, I am proud and honoured to be part of the team and am looking forward to working together with all families in the UK and aboard.

My name is Ruth Kettle-Frisby and I live in Havering, an outer borough of East London.

I was lecturer and Head of Philosophy A-Level at a sixth form college until I was forced to give up my career when I had my two fantastic little daughters. My eldest daughter is profoundly impacted with CDKL5, and expresses herself and her needs beautifully in a myriad of non-speaking ways.

I am now a proud unpaid carer; disability rights and social justice campaigner; writer, and freelance disability-inclusive arts consultant. 

I feel strongly that disabled children negotiating life with underfunded, clinically elusive rare diseases like CDKL5 should be actively upheld in all areas of society, and that social policy should always reflect their immense value.

I am Verity’s auntie and I work as Charity Development Manager for a NHS Trust in the Black Country.

Verity was diagnosed with CDKL5 in 2019, and, like many other families she has her own Facebook page detailing her journey. We are a very hands on family with Verity and are so proud of her achievements. Life with Verity is like a rollercoaster, there are highs and lows but the rewards are great when you see that light coming through.

I am honoured and proud to be part of the CDKL5 UK charity and look forward to working with the charity trustees going forward, particularly with fundraising and helping make a difference for families on their CDKL5 journey.

Trustee bio coming soon!